Variant report

Variant	esv3351788
Chromosome Location	chr16:59259051-59261399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:59240463..59243229-chr16:59257900..59260501,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575285741	chr16:59259067-59259068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56270214	chr16:59259116-59259117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140079987	chr16:59259136-59259137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202236843	chr16:59259259-59259260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542982649	chr16:59259269-59259270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145276379	chr16:59259281-59259282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561047390	chr16:59259291-59259292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368803231	chr16:59259316-59259317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528323249	chr16:59259328-59259329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541309543	chr16:59259389-59259390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559875435	chr16:59259425-59259426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146445855	chr16:59259429-59259430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181969725	chr16:59259441-59259442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35199393	chr16:59259456-59259457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542471969	chr16:59259457-59259458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75178956	chr16:59259477-59259478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140921645	chr16:59259546-59259547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553427300	chr16:59259578-59259579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186154133	chr16:59259596-59259597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566005722	chr16:59259600-59259601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574631498	chr16:59259610-59259611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533478094	chr16:59259648-59259649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570659842	chr16:59259711-59259712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9926952	chr16:59259772-59259773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs116571382	chr16:59259803-59259804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568213827	chr16:59259827-59259828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188741147	chr16:59259845-59259846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564897836	chr16:59259856-59259857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557247135	chr16:59259861-59259862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180816801	chr16:59259867-59259868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556888693	chr16:59259879-59259880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372084774	chr16:59259988-59259989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76101875	chr16:59260023-59260024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574372996	chr16:59260031-59260032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372368300	chr16:59260044-59260045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575257688	chr16:59260096-59260097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60261879	chr16:59260142-59260143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557783313	chr16:59260157-59260158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572880390	chr16:59260159-59260160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540307706	chr16:59260169-59260170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553303548	chr16:59260171-59260172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185215588	chr16:59260177-59260178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376376064	chr16:59260183-59260184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202135405	chr16:59260188-59260189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60603384	chr16:59260193-59260194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372597730	chr16:59260201-59260202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200308621	chr16:59260203-59260204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368856240	chr16:59260204-59260205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376583691	chr16:59260205-59260206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530822744	chr16:59260208-59260209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59256800-59259400	Enhancers	Fetal Lung	lung
2	chr16:59258800-59259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr16:59258800-59263400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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